Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens

por Geier, Christoph B., Piller, Alexander, Linder, Angela, Sauerwein, Kai M. T., Eibl, Martha M., Wolf, Hermann M.
Publicado 2015

Genotypic and phenotypic analysis of clinical isolates of Staphylococcus aureus revealed production patterns and hemolytic potentials unlinked to gene profiles and source

por Roetzer, Andreas, Haller, Guenter, Beyerly, John, Geier, Christoph B., Wolf, Hermann M., Gruener, Corina S., Model, Nina, Eibl, Martha M.
Publicado 2016

Hypomorphic Mutations in the BCR Signalosome Lead to Selective Immunoglobulin M Deficiency and Impaired B-cell Homeostasis

por Geier, Christoph B., Sauerwein, Kai M. T., Leiss-Piller, Alexander, Zmek, Isabella, Fischer, Michael B., Eibl, Martha M., Wolf, Hermann M.
Publicado 2018

Antigen-Specific CD4(+) T-Cell Activation in Primary Antibody Deficiency After BNT162b2 mRNA COVID-19 Vaccination

por Sauerwein, Kai M. T., Geier, Christoph B., Stemberger, Roman F., Akyaman, Hüseyin, Illes, Peter, Fischer, Michael B., Eibl, Martha M., Walter, Jolan E., Wolf, Hermann M.
Publicado 2022

Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG responders

por Sauerwein, Kai M.T., Geier, Christoph B., Stemberger, Roman F., Rossmanith, Raphael, Akyaman, Hüseyin, Illes, Peter, Fischer, Michael B., Eibl, Martha M., Walter, Jolan E., Wolf, Hermann M.
Publicado 2023

Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation

por Steininger, Jolanda, Rossmanith, Raphael, Geier, Christoph B., Leiss-Piller, Alexander, Thonhauser, Lukas, Weiss, Simone, Hainfellner, Johannes A., Freilinger, Michael, Schmidt, Wolfgang M., Eibl, Martha M., Wolf, Hermann M.
Publicado 2021

Combined Immunodeficiency Evolving into Predominant CD4+ Lymphopenia Caused by Somatic Chimerism in JAK3

por Ban, Sol A., Salzer, Elisabeth, Eibl, Martha M., Linder, Angela, Geier, Christoph B., Santos-Valente, Elisangela, Garncarz, Wojciech, Lion, Thomas, Ott, Raphael, Seelbach, Christoph, Boztug, Kaan, Wolf, Hermann M.
Publicado 2014

Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID

por Steininger, Jolanda, Leiss-Piller, Alexander, Geier, Christoph B., Rossmanith, Raphael, Elfeky, Reem, Bra, David, Pichler, Herbert, Lawitschka, Anita, Zubarovskaya, Natascha, Artacker, Gottfried, Matthes-Leodolter, Susanne, Eibl, Martha M., Wolf, Hermann M.
Publicado 2021

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

por Geier, Christoph B., Farmer, Jocelyn R., Foldvari, Zsofia, Ujhazi, Boglarka, Steininger, Jolanda, Sleasman, John W., Parikh, Suhag, Dilley, Meredith A., Pai, Sung-Yun, Henderson, Lauren, Hazen, Melissa, Neven, Benedicte, Moshous, Despina, Sharapova, Svetlana O., Mihailova, Snezhina, Yankova, Petya, Naumova, Elisaveta, Özen, Seza, Byram, Kevin, Fernandez, James, Wolf, Hermann M., Eibl, Martha M., Notarangelo, Luigi D., Calabrese, Leonard H., Walter, Jolan E.
Publicado 2020

Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells

por Csomos, Krisztian, Ujhazi, Boglarka, Blazso, Peter, Herrera, Jose L., Tipton, Christopher M., Kawai, Tomoki, Gordon, Sumai, Ellison, Maryssa, Wu, Kevin, Stowell, Matthew, Haynes, Lauren, Cruz, Rachel, Zakota, Bence, Nguyen, Johnny, Altrich, Michelle, Geier, Christoph B., Sharapova, Svetlana, Dasso, Joseph F., Leiding, Jennifer W., Smith, Grace, Al-Herz, Waleed, de Barros Dorna, Mayra, Fadugba, Olajumoke, Fronkova, Eva, Kanderova, Veronika, Svaton, Michael, Henrickson, Sarah E., Hernandez, Joseph D., Kuijpers, Taco, Kandilarova, Snezhina Mihailova, Naumova, Elizaveta, Milota, Tomas, Sediva, Anna, Moshous, Despina, Neven, Benedicte, Saco, Tara, Sargur, Ravishankar, Savic, Sinisa, Sleasman, John, Sunkersett, Gauri, Ward, Brant R., Komatsu, Masanobu, Pittaluga, Stefania, Kumanovics, Attila, Butte, Manish J., Cancro, Michael P., Pillai, Shiv, Meffre, Eric, Notarangelo, Luigi D., Walter, Jolan E.
Publicado 2022

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

por Sharapova, Svetlana O., Skomska-Pawliszak, Małgorzata, Rodina, Yulia A., Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga E., Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avčin, Tadej, Markelj, Gašper, Ciznar, Peter, Kalwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, Naumova, Elissaveta, Kandilarova, Snezhina, Babol-Pokora, Katarzyna, Varabyou, Dzmitry S., Barendregt, Barbara H., Raykina, Elena V., Varlamova, Tatiana V., Pavlova, Anna V., Grombirikova, Hana, Debeljak, Maruša, Mersiyanova, Irina V., Bondarenko, Anastasiia V., Chernyshova, Liudmyla I., Kostyuchenko, Larysa V., Guseva, Marina N., Rascon, Jelena, Muleviciene, Audrone, Preiksaitiene, Egle, Geier, Christoph B., Leiss-Piller, Alexander, Yamazaki, Yasuhiro, Kawai, Tomoki, Walter, Jolan E., Kondratenko, Irina V., Šedivá, Anna, van der Burg, Mirjam, Kuzmenko, Natalia B., Notarangelo, Luigi D., Bernatowska, Ewa, Aleinikova, Olga V.
Publicado 2020

Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

por Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita Lena, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian S., Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen Helene, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror S., Kühl, Jörn-Sven, Ip, Winnie, McDermott, Elizabeth M., Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha G., Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini S., Knutsen, Alan P., Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph B., Baumann, Ulrich, Neven, Bénédicte, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien
Publicado 2022

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

por Geier, Christoph B., Ellison, Maryssa, Cruz, Rachel, Pawar, Sumit, Leiss-Piller, Alexander, Zmajkovicova, Katarina, McNulty, Shannon M, Yilmaz, Melis, Evans, Martin Oman, Gordon, Sumai, Ujhazi, Boglarka, Wiest, Ivana, Abolhassani, Hassan, Aghamohammadi, Asghar, Barmettler, Sara, Bhar, Saleh, Bondarenko, Anastasia, Bolyard, Audrey Anna, Buchbinder, David, Cada, Michaela, Cavieres, Mirta, Connelly, James A., Dale, David C., Deordieva, Ekaterina, Dorsey, Morna J., Drysdale, Simon B., Ehl, Stephan, Elfeky, Reem, Fioredda, Francesca, Firkin, Frank, Förster-Waldl, Elizabeth, Geng, Bob, Goda, Vera, Gonzalez-Granado, Luis, Grunebaum, Eyal, Grzesk, Elzbieta, Henrickson, Sarah E., Hilfanova, Anna, Hiwatari, Mitsuteru, Imai, Chihaya, Ip, Winnie, Jyonouchi, Soma, Kanegane, Hirokazu, Kawahara, Yuta, Khojah, Amer M., Kim, Vy Hong-Diep, Kojić, Marina, Kołtan, Sylwia, Krivan, Gergely, Langguth, Daman, Lau, Yu-Lung, Leung, Daniel, Miano, Maurizio, Mersyanova, Irina, Mousallem, Talal, Muskat, Mica, Naoum, Flavio A., Noronha, Suzie A., Ouederni, Monia, Ozono, Shuichi, Richmond, G. Wendell, Sakovich, Inga, Salzer, Ulrich, Schuetz, Catharina, Seeborg, Filiz Odabasi, Sharapova, Svetlana O., Sockel, Katja, Volokha, Alla, von Bonin, Malte, Warnatz, Klaus, Wegehaupt, Oliver, Weinberg, Geoffrey A., Wong, Ke-Juin, Worth, Austen, Yu, Huang, Zharankova, Yulia, Zhao, Xiaodong, Devlin, Lisa, Badarau, Adriana, Csomos, Krisztian, Keszei, Marton, Pereira, Joao, Taveras, Arthur G, Beaussant-Cohen, Sarah L., Ong, Mei-Sing, Shcherbina, Anna, Walter, Jolan E.
Publicado 2022